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https://www.readbyqxmd.com/read/28817804/structural-mechanism-for-modulation-of-synaptic-neuroligin-neurexin-signaling-by-mdga-proteins
#1
Jonathan Elegheert, Vedrana Cvetkovska, Amber J Clayton, Christina Heroven, Kristel M Vennekens, Samuel N Smukowski, Michael C Regan, Wanyi Jia, Alexandra C Smith, Hiro Furukawa, Jeffrey N Savas, Joris de Wit, Jo Begbie, Ann Marie Craig, A Radu Aricescu
Neuroligin-neurexin (NL-NRX) complexes are fundamental synaptic organizers in the central nervous system. An accurate spatial and temporal control of NL-NRX signaling is crucial to balance excitatory and inhibitory neurotransmission, and perturbations are linked with neurodevelopmental and psychiatric disorders. MDGA proteins bind NLs and control their function and interaction with NRXs via unknown mechanisms. Here, we report crystal structures of MDGA1, the NL1-MDGA1 complex, and a spliced NL1 isoform. Two large, multi-domain MDGA molecules fold into rigid triangular structures, cradling a dimeric NL to prevent NRX binding...
August 16, 2017: Neuron
https://www.readbyqxmd.com/read/28816917/factors-associated-with-developmental-behavioral-pediatricians-prescribing-psychotropic-medication-to-children-with-autism-spectrum-disorder-a-study-of-three-dbpnet-sites
#2
Carissa Jackel, Justine Shults, Susan Wiley, Jareen Meinzen-Derr, Marilyn Augustyn, Nathan Blum
OBJECTIVE: Psychotropic medications are frequently prescribed to children with autism spectrum disorder (ASD), but little is known about the prescribing practices of developmental-behavioral pediatricians (DBPs). Our objective was to determine whether clinical site, age, insurance, or comorbidities influenced DBPs prescribing psychotropic medication for children with ASD. METHODS: A retrospective analysis was performed using electronic health record data of all patients with ASD seen at 3 academic developmental-behavioral pediatrics (DBP) clinical programs from January 2010 to December 2011...
August 10, 2017: Journal of Developmental and Behavioral Pediatrics: JDBP
https://www.readbyqxmd.com/read/28816489/the-path-to-an-autism-spectrum-disorders-diagnosis-in-ethiopia-parent-perspective
#3
Waganesh A Zeleke, Tammy Hughes, Morgan Chitiyo
This study explores the common characteristics of children with autism spectrum disorders (ASDs) and the available diagnostic and intervention currently practiced for children with ASDs in Ethiopia based on parents' experience. Data gathered from 100 parents in Ethiopia detail the difficulties families face when they suspect their child has an autism spectrum disorder (ASD). The data indicate Ethiopian parents pursued a diagnosis of ASD after noting common ASD behaviors such as hand flapping and unusual attachments to objects...
August 17, 2017: American Journal of Orthopsychiatry
https://www.readbyqxmd.com/read/28816000/investigating-facial-phenotype-in-autism-spectrum-conditions-the-importance-of-a-hypothesis-driven-approach
#4
Maryam Boutrus, Murray T Maybery, Gail A Alvares, Diana Weiting Tan, Kandice J Varcin, Andrew J O Whitehouse
Atypical facial characteristics have been observed in many disorders associated with developmental disability. While autism spectrum conditions (ASC) have not previously been thought to be associated with a distinct facial phenotype, an emerging research literature is casting doubt on this assumption. The identification of differences in the facial phenotype of individuals with ASC may contribute to efforts to promote early identification of the condition and help elucidate etiological pathways. With the aim of identifying facial phenotypes associated with ASC, this commentary evaluated facial features purported to distinguish ASC from typical development...
August 17, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28815985/sticking-with-it-psychotherapy-outcomes-for-adults-with-autism-spectrum-disorder-in-a-university-counseling-center-setting
#5
Emily Anderberg, Jonathan C Cox, E Shannon Neeley Tass, David M Erekson, Terisa P Gabrielsen, Jared S Warren, Jared Cline, Devin Petersen, Mikle South
Young adults with autism spectrum disorders (ASD) experience high rates of comorbid mental health concerns in addition to distress arising from the core symptoms of autism. Many adults with ASD seek psychological treatment in outpatient facilities in their communities that are not specifically geared toward individuals with ASD. However, few studies have looked at the effectiveness of standard psychotherapeutic care in adults with ASD. This study aimed to discover how individuals with ASD fare in psychotherapy within a college counseling setting, compared to their neurotypical peers...
August 17, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28815940/production-and-perception-of-emotional-prosody-by-adults-with-autism-spectrum-disorder
#6
Daniel J Hubbard, Daniel J Faso, Peter F Assmann, Noah J Sasson
This study examined production and perception of affective prosody by adults with autism spectrum disorder (ASD). Previous research has reported increased pitch variability in talkers with ASD compared to typically developing (TD) controls in grammatical speaking tasks (e.g., comparing interrogative vs. declarative sentences), but it is unclear whether this pattern extends to emotional speech. In this study, speech recordings in five emotion contexts (angry, happy, interested, sad, and neutral) were obtained from 15 adult males with ASD and 15 controls (Experiment 1), and were later presented to 52 listeners (22 with ASD) who were asked to identify the emotion expressed and rate the level of naturalness of the emotion in each recording (Experiment 2)...
August 17, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28815939/paternal-transmission-of-a-fmr1-full-mutation-allele
#7
Maria Isabel Alvarez-Mora, Miriam Guitart, Laia Rodriguez-Revenga, Irene Madrigal, Elisabeth Gabau, Montserrat Milà
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID) and autism. In most of cases, the molecular basis of this syndrome is a CGG repeat expansion in the 5' untranslated region of the FMR1 gene. It is inherited as an X linked dominant trait, with a reduced penetrance (80% for males and 30% for females). Full mutation (FM) expansion from premutated alleles (PM) is only acquired via maternal meiosis, while paternal transmission always remains in the PM range. We present a 16-year-old girl with a mild fragile X syndrome phenotype...
August 16, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28815619/sluggish-cognitive-tempo-in-children-and-adolescents-with-higher-functioning-autism-spectrum-disorders-social-impairments-and-internalizing-symptoms
#8
Outi Reinvall, Teija Kujala, Arja Voutilainen, Anu-Liisa Moisio, Pekka Lahti-Nuuttila, Marja Laasonen
Sluggish cognitive tempo (SCT) was introduced in 1980s in the field of attention deficit hyperactivity disorder (ADHD). Studies indicate that symptoms of SCT are separate from symptoms of ADHD and independently associated with multiple domains of functioning in clinical groups and in typical development. We assessed whether similar pattern would apply to higher functioning autism spectrum disorders (ASD). Children with higher functioning ASD (N = 55; 5-15 years) were divided into the ASD+High SCT (n = 17), the ASD+Medium SCT (n = 18) and the ASD+Low SCT (n = 20) groups based on parent-rated daydreaming and slowness on the Five to Fifteen questionnaire (FTF)...
August 16, 2017: Scandinavian Journal of Psychology
https://www.readbyqxmd.com/read/28815171/functional-analysis-of-na-h-exchanger-9-variants-identified-in-patients-with-autism-and-epilepsy
#9
Hari Prasad, James Osei-Owusu, Rajini Rao
Na(+)/H(+) exchanger isoform 9, NHE9, finely tunes the pH within the endosomal lumen to regulate cargo trafficking and turnover. In patients with autism, genetic approaches have revealed deletions, truncations and missense mutations in the gene encoding NHE9 (SLC9A9). To help establish causality, functional evaluation is needed to distinguish pathogenic mutations from harmless polymorphisms. Here, we evaluated three previously uncharacterized NHE9 variants, P117T, D496N, and Q609K reported in patients with autism and epilepsy...
April 2017: Matters (Zur)
https://www.readbyqxmd.com/read/28814540/autism-spectrum-disorder-in-fragile-x-syndrome-cooccurring-conditions-and-current-treatment
#10
Walter E Kaufmann, Sharon A Kidd, Howard F Andrews, Dejan B Budimirovic, Amy Esler, Barbara Haas-Givler, Tracy Stackhouse, Catharine Riley, Georgina Peacock, Stephanie L Sherman, W Ted Brown, Elizabeth Berry-Kravis
BACKGROUND AND OBJECTIVE: Individuals with fragile X syndrome (FXS) are frequently codiagnosed with autism spectrum disorder (ASD). Most of our current knowledge about ASD in FXS comes from family surveys and small studies. The objective of this study was to examine the impact of the ASD diagnosis in a large clinic-based FXS population to better inform the care of people with FXS. METHODS: The study employed a data set populated by data from individuals with FXS seen at specialty clinics across the country...
June 2017: Pediatrics
https://www.readbyqxmd.com/read/28813950/feasibility-of-using-sphero-in-rehabilitation-of-children-with-autism-in-social-and-communication-skills
#11
Shadan Golestan, Pegah Soleiman, Hadi Moradi
The majority of children with autism face difficulties in social interaction and communication skills. Consequently, in this paper we present a pilot study in which we explored the usability of Sphero(TM) as a rehabilitation tool for developing social and communication skills. We designed an interactive scenario where children with autism should verbally control the robot and utter voice commands. Our observations show that the children were very interested to interact with the robot in the given framework...
July 2017: IEEE ... International Conference on Rehabilitation Robotics: [proceedings]
https://www.readbyqxmd.com/read/28813944/robotic-set-up-to-quantify-hand-eye-behavior-in-motor-execution-and-learning-of-children-with-autism-spectrum-disorder
#12
Claudia Casellato, Marta Gandolla, Alessandro Crippa, Alessandra Pedrocchi
Autism spectrum disorder (ASD) is a multifaceted neurodevelopmental disorder characterized by a persistence of social and communication impairment, and restricted and repetitive behaviors. However, motor disorders have also been described, but not objectively assessed. Most studies showed inefficient eye-hand coordination and motor learning in children with ASD; in other experiments, mechanisms of acquisition of internal models in self-generated movements appeared to be normal in autism. In this framework, we have developed a robotic protocol, recording gaze and hand data during upper limb tasks, in which a haptic pen-like handle is moved along specific trajectories displayed on the screen...
July 2017: IEEE ... International Conference on Rehabilitation Robotics: [proceedings]
https://www.readbyqxmd.com/read/28813454/applying-machine-learning-to-identify-autistic-adults-using-imitation-an-exploratory-study
#13
Baihua Li, Arjun Sharma, James Meng, Senthil Purushwalkam, Emma Gowen
Autism spectrum condition (ASC) is primarily diagnosed by behavioural symptoms including social, sensory and motor aspects. Although stereotyped, repetitive motor movements are considered during diagnosis, quantitative measures that identify kinematic characteristics in the movement patterns of autistic individuals are poorly studied, preventing advances in understanding the aetiology of motor impairment, or whether a wider range of motor characteristics could be used for diagnosis. The aim of this study was to investigate whether data-driven machine learning based methods could be used to address some fundamental problems with regard to identifying discriminative test conditions and kinematic parameters to classify between ASC and neurotypical controls...
2017: PloS One
https://www.readbyqxmd.com/read/28812966/a-snapshot-of-intellectual-disabilities-in-lao-pdr-challenges-for-the-development-of-services
#14
Stian H Thoresen, Angela Fielding, Sue Gillieatt, Barbara Blundell, Liem Nguyen
Lao People's Democratic Republic (PDR) has experienced significant economic growth in the last two decades. While access to education, health, and employment for people with disabilities has also improved markedly, people with intellectual disabilities are still among the most vulnerable in society. This article presents findings from a screening survey of 2469 participants, a focus group discussion with key stakeholders in intellectual disabilities, and a case study of the Association for Autism. The screening survey suggests 1...
September 2017: Journal of Intellectual Disabilities: JOID
https://www.readbyqxmd.com/read/28812501/taking-antidepressants-during-pregnancy-linked-to-autism
#15
(no author information available yet)
Children exposed to antidepressants in utero are at a slightly higher risk of autism than children of mothers with psychiatric disorders who were not treated with antidepressants, a study has found.
August 16, 2017: Nursing Standard
https://www.readbyqxmd.com/read/28812273/a-precision-medicine-approach-to-oxytocin%C3%A2-trials
#16
Elissar Andari, Rene Hurlemann, Larry J Young
In this chapter, we introduce a new area of social pharmacology that encompasses the study of the role of neuromodulators in modulating a wide range of social behaviors and brain function, with the interplay of genetic and epigenetic factors. There are increasing evidences for the role of the neuropeptide oxytocin in modulating a wide range of social behaviors, in reducing anxiety, and in impacting the social brain network. Oxytocin also promotes social functions in patients with neuropsychiatric disorders, such as autism and reduces anxiety and fear in anxiety disorders...
August 16, 2017: Current Topics in Behavioral Neurosciences
https://www.readbyqxmd.com/read/28812269/oxytocin-signaling-in-the-early-life-of-mammals-link-to-neurodevelopmental-disorders-associated-with-asd
#17
Françoise Muscatelli, Michel G Desarménien, Valery Matarazzo, Valery Grinevich
Oxytocin plays a role in various functions including endocrine and immune functions but also parent-infant bonding and social interactions. It might be considered as a main neuropeptide involved in mediating the regulation of adaptive interactions between an individual and his/her environment. Recently, a critical role of oxytocin in early life has been revealed in sensory processing and multi-modal integration that are essential for normal postnatal neurodevelopment. An early alteration in the oxytocin-system may disturb its maturation and may have short-term and long-term pathological consequences such as autism spectrum disorders...
August 16, 2017: Current Topics in Behavioral Neurosciences
https://www.readbyqxmd.com/read/28811938/neuropsychological-characteristics-of-children-with-mixed-autism-and-adhd
#18
Costanza Colombi, Mohammad Ghaziuddin
Clinical heterogeneity is a well-established characteristic of autism spectrum disorder (ASD). While the comorbidity of ASD and ADHD is well known in clinical practice, relatively little research has examined the neuropsychological profile of children with ASD + ADHD. Our study showed significant differences in the neuropsychological characteristics of children with ASD + ADHD compared to those with ASD only. Children with ASD + ADHD showed higher symptoms of anxiety, worse working memory, and less empathy, as measured by the "Reading the Mind in the Eyes...
2017: Autism Research and Treatment
https://www.readbyqxmd.com/read/28811914/the-impact-of-transforming-care-on-the-care-and-safety-of-patients-with-intellectual-disabilities-and-forensic-needs
#19
John L Taylor, Iain McKinnon, Ian Thorpe, Bruce T Gillmer
NHS England recently published a national plan to develop community services for people with intellectual disabilities and autism who display challenging behaviour by using resources from the closure of a large number of hospital beds. An ambitious timescale has been set to implement this plan. The bed closure programme is moving ahead rapidly, but there has been little progress in developing community services to support it. This paper discusses the impact of the gap between policy and practice on the care and safety of patients with intellectual disabilities and forensic needs who form a distinct subgroup of the target population and are being disproportionately affected by this government policy...
August 2017: BJPsych Bulletin
https://www.readbyqxmd.com/read/28811601/autonomic-versus-perceptual-accounts-for-tactile-hypersensitivity-in-autism-spectrum-disorder
#20
Hiroshi Fukuyama, Shin-Ichiro Kumagaya, Kosuke Asada, Satsuki Ayaya, Masaharu Kato
Tactile atypicality in individuals with autism spectrum disorder (ASD) has harmful effects on their everyday lives including social interactions. However, whether tactile atypicality in ASD reflects perceptual and/or autonomic processes is unknown. Here, we show that adults with ASD have hypersensitivity to tactile stimuli in the autonomic but not perceptual domain. In particular, adults with ASD showed a greater skin conductance response (SCR) to tactile stimuli compared to typically developing (TD) adults, despite an absence of differences in subjective responses...
August 15, 2017: Scientific Reports
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